PDIA2
pdia2 Gene: Exploring the Enigma Behind Calcium Homeostasis
Description
The pdia2 gene, located on chromosome 6q25.3, encodes a protein known as protein disulfide isomerase A2 (PDIA2). This protein plays a pivotal role in managing cellular calcium homeostasis, a complex process essential for regulating various biological functions, including muscle contraction, nerve impulse generation, and enzyme activity.
PDIA2 belongs to the protein disulfide isomerase (PDI) family, responsible for catalyzing the formation and rearrangement of disulfide bonds within proteins. These bonds contribute to the structural stability, correct folding, and activity of target proteins. PDIA2 specifically targets calcium-binding proteins, ensuring their proper folding and function.
Associated Diseases
Mutations in the pdia2 gene have been linked to several disorders related to calcium handling, including:
- X-linked dominant chondrodysplasia punctata (CDPX2): A rare genetic condition characterized by severe bone malformations, intellectual disability, and impaired growth.
- X-linked recessive chondrodysplasia punctata (CDPX1): A lethal disorder causing skeletal abnormalities, neurological problems, and respiratory distress.
- Epilepsy: PDIA2 mutations have been identified in individuals with a rare form of epilepsy called benign familial infantile epilepsy.
- Cancer: Overexpression of PDIA2 has been observed in certain types of cancer, such as breast cancer, suggesting its role in tumor progression.
Did you Know ?
Approximately 1 in 50,000 males are affected by CDPX2, making it a relatively rare but devastating condition.
